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Achromatopsia clinical trials

View clinical trials related to Achromatopsia.

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NCT ID: NCT04124185 Recruiting - Achromatopsia Clinical Trials

Natural History Study for Achromatopsia

Start date: September 13, 2011
Phase:
Study type: Observational [Patient Registry]

In preparation for human clinical trials we intend to undertake a detailed phenotypic study to help to identify patients who may be suitable for therapeutic intervention. In addition, with the recent availability of advanced imaging modalities, further detailed phenotypic investigations will also be valuable in helping to probe the relationship between structure and function and may shed light on disease mechanisms.

NCT ID: NCT04041232 Not yet recruiting - Achromatopsia Clinical Trials

PBA Use for Treatment of ATF6-/- Patients

Start date: May 2021
Phase: Early Phase 1
Study type: Interventional

Some patients with achromatopsia, an inherited disorder characterized by partial or complete loss of color vision, carry mutations in ATF6. ATF6 is a gene that is responsible for coding a protein that acts in response to endoplasmic reticulum (ER) stress. When the ATF6 protein is mutated, retinal function decreases, contributing to color blindness. The study aims to investigate whether an already FDA-approved drug, glycerol phenylbutyrate (PBA), can improve retinal function inpatients with achromatopsia caused by ATF6 mutations. Patients will be instructed to take three doses of PBA per day at equally divided time intervals and rounded up to the nearest 0.5 mL. The total dose of PBA will be 4.5 to 11.2 mL/m2/day (5 to 12.4 g/m2/day) and will not exceed 17.5 mL/day (19 g/day). Their condition will be monitored over the course of a minimum of 3 clinic visits that will consist of a number of retinal function tests, fundus examinations, and imaging procedures. Findings from the study could elucidate the potential for PBA to serve as a treatment for patients with ATF6-mediated a chromatopsia.

NCT ID: NCT03758404 Recruiting - Achromatopsia Clinical Trials

Gene Therapy for Achromatopsia (CNGA3)

CNGA3
Start date: July 18, 2019
Phase: Phase 1/Phase 2
Study type: Interventional

A clinical trial of AAV - CNGA3 retinal gene therapy for patients with achromatopsia

NCT ID: NCT03278873 Recruiting - Achromatopsia Clinical Trials

Long-Term Follow-Up Gene Therapy Study for Achromatopsia CNGB3 and CNGA3

Start date: June 27, 2017
Phase: Phase 1/Phase 2
Study type: Interventional

This study is a longer-term follow-up study for patients who participated in one of the clinical trials: AAV - CNGB3 retinal gene therapy for patients with achromatopsia, or AAV - CNGA3 retinal gene therapy for patients with achromatopsia.

NCT ID: NCT03001310 Completed - Achromatopsia Clinical Trials

Gene Therapy for Achromatopsia (CNGB3)

CNGB3
Start date: January 16, 2017
Phase: Phase 1/Phase 2
Study type: Interventional

A clinical trial of AAV - CNGB3 retinal gene therapy for patients with achromatopsia

NCT ID: NCT02935517 Recruiting - Achromatopsia Clinical Trials

Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGA3 Achromatopsia

Start date: May 1, 2017
Phase: Phase 1/Phase 2
Study type: Interventional

This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-402, administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGA3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.

NCT ID: NCT02610582 Recruiting - Achromatopsia Clinical Trials

Safety and Efficacy of rAAV.hCNGA3 Gene Therapy in Patients With CNGA3-linked Achromatopsia

Colourbridge
Start date: November 2015
Phase: Phase 1/Phase 2
Study type: Interventional

The purpose of this study is to proof the safety and efficacy of a single bilateral subretinal injection of rAAV.hCNGA3 in adult and minor patients with CNGA3-linked achromatopsia.

NCT ID: NCT02599922 Recruiting - Achromatopsia Clinical Trials

Safety and Efficacy Trial of AAV Gene Therapy in Patients With CNGB3 Achromatopsia

Start date: February 2016
Phase: Phase 1/Phase 2
Study type: Interventional

This will be a non-randomized, open-label, Phase 1/2 study of the safety and efficacy of AGTC-401 administered to one eye by subretinal injection in individuals with achromatopsia caused by mutations in the CNGB3 gene. The primary study endpoint will be safety and the secondary study endpoint will be efficacy.

NCT ID: NCT02435940 Recruiting - Clinical trials for Retinitis Pigmentosa

Inherited Retinal Degenerative Disease Registry

Start date: June 2014
Phase:
Study type: Observational [Patient Registry]

My Retina Tracker® is a registry for people affected by an inherited retinal degenerative disease. It is a patient-initiated registry accessible via a secure on-line portal at www.MyRetinaTracker.org. Affected individuals and genetically related, unaffected, family members who create entries are guided to create a profile that captures the participants' perspective on their disease and its progress; family history; genetic testing results; preventive measures; and interest in participation in research studies. The participants may also choose to ask their clinician to add clinical measurements and results at each clinical visit. Participants are urged to update the information regularly to create longitudinal records of their disease, from their own perspective, and their clinical progress. The overall goals are: to better understand the heterogeneity of the inherited retinal degenerative diseases; to understand the prevalence of the different diseases and gene mutations; to assist in the establishment of genotype-phenotype relationships; to help understand the natural history of the diseases; to help accelerate research and development of clinical trials for treatments; and to provide a mechanism that facilitates more rapid recruitment for research studies and clinical trials.

NCT ID: NCT01846052 Completed - Achromatopsia Clinical Trials

Clinical and Genetic Characterization of Individuals With Achromatopsia

Start date: June 2013
Phase: N/A
Study type: Observational

The purpose of this study is to identify individuals with achromatopsia caused by mutations in the CNGB3 gene and characterize their clinical condition using several tests of visual function every 6 months for up to 1.5 years.